Incidental Mutation 'R5355:Atxn10'
ID 424062
Institutional Source Beutler Lab
Gene Symbol Atxn10
Ensembl Gene ENSMUSG00000016541
Gene Name ataxin 10
Synonyms Sca10, TEG-169, Tex169, E46
MMRRC Submission 042934-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5355 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 85220446-85347413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85346515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 424 (N424K)
Ref Sequence ENSEMBL: ENSMUSP00000132450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163242]
AlphaFold P28658
Predicted Effect probably damaging
Transcript: ENSMUST00000163242
AA Change: N424K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
AA Change: N424K

DomainStartEndE-ValueType
Pfam:Atx10homo_assoc 370 467 4.7e-38 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 94% (50/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice die at early postimplantation stages. [provided by MGI curators]
Allele List at MGI

All alleles(20) : Gene trapped(20)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,776,873 (GRCm39) L857P probably damaging Het
Adam12 T C 7: 133,489,671 (GRCm39) *582W probably null Het
Adra1d A G 2: 131,403,007 (GRCm39) V361A probably damaging Het
Ank2 A G 3: 126,737,698 (GRCm39) probably benign Het
C8b A G 4: 104,637,860 (GRCm39) T111A probably benign Het
Ccdc168 A C 1: 44,097,139 (GRCm39) C1320G possibly damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdr2l T C 11: 115,284,396 (GRCm39) V244A possibly damaging Het
Col11a2 A G 17: 34,270,775 (GRCm39) M468V probably benign Het
Col4a2 G A 8: 11,495,984 (GRCm39) R1535H probably damaging Het
Cryab A T 9: 50,664,751 (GRCm39) S59C probably damaging Het
Cuzd1 G A 7: 130,917,853 (GRCm39) T249I probably damaging Het
Disp2 G A 2: 118,617,392 (GRCm39) V129M probably benign Het
Dlg2 G T 7: 91,099,011 (GRCm39) R31L probably benign Het
Dthd1 A C 5: 62,996,730 (GRCm39) L488F probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Fat2 T G 11: 55,172,992 (GRCm39) I2574L probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fryl T C 5: 73,231,247 (GRCm39) D1610G probably damaging Het
Gm10330 T A 12: 23,830,131 (GRCm39) N17Y probably damaging Het
Gm4787 T A 12: 81,424,239 (GRCm39) R640* probably null Het
H2bc13 A T 13: 21,900,030 (GRCm39) I95N probably damaging Het
Ift88 T A 14: 57,675,699 (GRCm39) S71T probably benign Het
Isoc2b A G 7: 4,852,357 (GRCm39) probably benign Het
Itgb2 G T 10: 77,393,886 (GRCm39) R442L probably benign Het
Lama5 A T 2: 179,823,444 (GRCm39) N2658K possibly damaging Het
Lemd3 A T 10: 120,769,538 (GRCm39) I598K probably damaging Het
Lrp2 A T 2: 69,285,182 (GRCm39) C3825* probably null Het
Mep1a T C 17: 43,788,037 (GRCm39) D673G probably damaging Het
Met A G 6: 17,491,361 (GRCm39) Y41C probably damaging Het
Mfn2 A G 4: 147,979,035 (GRCm39) V99A probably damaging Het
Mmadhc A G 2: 50,181,436 (GRCm39) I78T probably benign Het
Mmp9 C A 2: 164,792,912 (GRCm39) P389T possibly damaging Het
Mvk T G 5: 114,590,499 (GRCm39) S7A probably damaging Het
Nlrp1a T A 11: 71,015,077 (GRCm39) T58S probably benign Het
Nlrp1c-ps C A 11: 71,148,839 (GRCm39) noncoding transcript Het
Nr1h3 A G 2: 91,022,253 (GRCm39) I125T possibly damaging Het
Or2a55-ps1 C T 6: 43,071,598 (GRCm39) noncoding transcript Het
Or8k39 A T 2: 86,563,680 (GRCm39) I92K probably damaging Het
Parn A G 16: 13,485,886 (GRCm39) I3T possibly damaging Het
Parp8 A G 13: 116,998,740 (GRCm39) probably null Het
Parva T C 7: 112,143,475 (GRCm39) probably null Het
Pwp2 A C 10: 78,011,378 (GRCm39) I672M possibly damaging Het
Sfswap C T 5: 129,616,810 (GRCm39) T418I probably benign Het
Slc6a3 A G 13: 73,709,078 (GRCm39) Y334C probably damaging Het
Slc7a13 C A 4: 19,839,267 (GRCm39) T290K probably benign Het
Spry2 A G 14: 106,130,712 (GRCm39) L158P probably damaging Het
Usp25 A G 16: 76,847,342 (GRCm39) E150G probably damaging Het
Zfp747 A G 7: 126,973,769 (GRCm39) F134L possibly damaging Het
Zp3r A G 1: 130,524,518 (GRCm39) F175S probably benign Het
Zscan22 C A 7: 12,640,435 (GRCm39) N67K probably benign Het
Other mutations in Atxn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Atxn10 APN 15 85,220,666 (GRCm39) start codon destroyed probably benign 0.33
IGL01020:Atxn10 APN 15 85,259,623 (GRCm39) splice site probably null
IGL01380:Atxn10 APN 15 85,260,896 (GRCm39) nonsense probably null
IGL01408:Atxn10 APN 15 85,260,896 (GRCm39) nonsense probably null
3-1:Atxn10 UTSW 15 85,322,295 (GRCm39) splice site probably benign
R0190:Atxn10 UTSW 15 85,220,730 (GRCm39) missense possibly damaging 0.84
R0319:Atxn10 UTSW 15 85,249,483 (GRCm39) missense probably damaging 1.00
R1437:Atxn10 UTSW 15 85,243,675 (GRCm39) missense possibly damaging 0.47
R1746:Atxn10 UTSW 15 85,260,864 (GRCm39) missense probably damaging 1.00
R2050:Atxn10 UTSW 15 85,249,513 (GRCm39) missense probably benign 0.37
R3055:Atxn10 UTSW 15 85,271,206 (GRCm39) missense probably benign 0.03
R4559:Atxn10 UTSW 15 85,322,321 (GRCm39) missense possibly damaging 0.81
R4786:Atxn10 UTSW 15 85,271,344 (GRCm39) missense probably benign 0.03
R4799:Atxn10 UTSW 15 85,260,909 (GRCm39) splice site probably null
R4831:Atxn10 UTSW 15 85,271,260 (GRCm39) missense probably benign 0.01
R5323:Atxn10 UTSW 15 85,275,944 (GRCm39) missense probably benign 0.00
R5335:Atxn10 UTSW 15 85,220,785 (GRCm39) splice site probably null
R5768:Atxn10 UTSW 15 85,277,621 (GRCm39) missense probably benign 0.01
R6260:Atxn10 UTSW 15 85,346,612 (GRCm39) missense probably benign 0.38
R6277:Atxn10 UTSW 15 85,275,893 (GRCm39) missense probably benign 0.05
R6370:Atxn10 UTSW 15 85,277,586 (GRCm39) missense probably damaging 1.00
R6645:Atxn10 UTSW 15 85,260,904 (GRCm39) critical splice donor site probably null
R6957:Atxn10 UTSW 15 85,220,699 (GRCm39) missense probably damaging 1.00
R7859:Atxn10 UTSW 15 85,346,526 (GRCm39) missense probably benign 0.01
R8031:Atxn10 UTSW 15 85,277,594 (GRCm39) missense probably benign
R9062:Atxn10 UTSW 15 85,275,918 (GRCm39) missense probably benign
R9171:Atxn10 UTSW 15 85,277,557 (GRCm39) missense probably damaging 1.00
R9201:Atxn10 UTSW 15 85,243,687 (GRCm39) missense probably damaging 0.98
R9429:Atxn10 UTSW 15 85,346,565 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- AAATGGGTTTCTCATTGAGTGC -3'
(R):5'- CCAAGTCACAGAGATGCAGG -3'

Sequencing Primer
(F):5'- CTCATTGAGTGCATATGTATTCTCC -3'
(R):5'- CTGAGGACAGCTTACAGAGGGTAC -3'
Posted On 2016-08-04